Abstract：
Split-hand/foot malformation (SHFM) is a genetically heterogeneous congenital limb reduction defect characterized by the deficiencies of central rays of the autopod. Tandem duplications at 10q24 locus account for approximately 20% of all SHFM cases. Here, we report five affected individuals from four unrelated Indian families with SHFM3 caused by microduplication of 10q24 locus showing varied clinical presentations. This report substantiates and extends the current understanding of this rare, multifaceted, and complex condition.
摘要：
手/足分裂畸形（SHFM）是一种遗传异质性先天性肢体减少缺损，其特征是自体足的中央射线不足。10q24基因座处的串联重复约占所有SHFM病例的20％。这里,我们报告了来自四个无关的印度家庭的5名受影响的个体，这些个体是由10q24基因座微重复引起的SHFM3，表现出不同的临床表现。本报告证实并扩展了目前对这一罕见现象的理解，多方面,复杂的条件。
